| apnea |
| ataxia |
| blindness, visual loss, visual impairment |
| corpus callosum, agenesis/hypoplasia |
| dysmorphism |
| failure to thrive |
| genital hypoplasia |
| hypotonia |
| macrocephaly (large calvaria, >2 SD for age) |
| mental retardation |
| nystagmus |
| onset, infancy |
| onset, neonatal |
| polydactyly |
| renal cysts |
| tachypnea, hyperpnea, dyspnea, respiratory distress |
